2024年12月24日 · ATN1 (Atrophin 1) is a Protein Coding gene. Diseases associated with ATN1 include Dentatorubral-Pallidoluysian Atrophy and Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies. Among its related pathways are PIP3 activates AKT signaling and Signal Transduction.

2022年8月25日 · ATN1-related neurodevelopmental disorder (ATN1-NDD) is characterized by developmental delay / intellectual disability. Other neurologic findings can include brain malformations, epilepsy, cortical visual impairment, infantile hypotonia, and hearing loss.

Atrophin-1 is a protein that in humans is encoded by the ATN1 gene. [5] The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. [6] The function of Atrophin-1 has not yet been determined. [7]

The ATN1 gene provides instructions for making a protein called atrophin 1. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in many areas of the brain.

2024年12月28日 · These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes. Title: Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs.

2019年7月3日 · The ATN1 gene encodes atrophin-1, a member of a class of evolutionarily conserved transcriptional corepressors involved in nuclear signaling. ATN1 is believed to play a role as a nuclear transcriptional regulator important for brain and other organ system development (summary by Palmer et al., 2019).

Dentatorubral pallidoluysian atrophy (DRPLA) 是一种罕见的神经退行性疾病，其特征是小脑性共济失调、肌阵挛性癫痫、舞蹈手足徐动症和痴呆。 该疾病与该基因内的三核苷酸重复序列 (CAG/CAA) 从 7-35 个拷贝扩展到 49-93 个拷贝有关。 编码的蛋白质包括一个丝氨酸重复序列和一个交替的酸性和碱性氨基酸区域，以及可变的谷氨酰胺重复序列。 可变剪接导致编码相同蛋白质的两个转录变体。 [RefSeq 提供，2016 年 7 月]

2025年2月8日 · Clinical resource with information about ATN1, Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, Dentatorubral-pallidoluysian atrophy, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Description: Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. (from RefSeq NM_001007026) RefSeq Summary (NM_001007026): Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia.

2024年4月1日 · Research has shown gene ATN1 to be associated with the nuclear receptor signaling. Its mutations in an evolutionarily conserved histidine-rich motif may cause CHEDDA, short for congenital hypotonia, epilepsy, developmental delay and digital anomalies, a recently identified neurodevelopmental syndrome that could evolve into developmental and ...